A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15692520



Internal ID5692765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48735949..48739271hg38UCSC Ensembl
Innerchr17:48735949..48739271hg38UCSC Ensembl
Outerchr17:48735718..48739459hg38UCSC Ensembl
chr17:46813311..46816633hg19UCSC Ensembl
Innerchr17:46813311..46816633hg19UCSC Ensembl
Outerchr17:46813080..46816821hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg383323
hg193323
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640722
Supporting Variants
SamplesNA19443
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15692520
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer